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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:immunodeficiency 55
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Accession:DOID:0111993 term browser browse the term
Definition:A combined immunodeficiency characterized by intrauterine growth retardation and a defect in DNA replication causing impaired immune cell differentiation in the bone marrow resulting in natural killer cell deficiency and chronic neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in GINS1 on chromosome 20p11.21. (DO)
Synonyms:exact_synonym: IMD55;   combined immunodeficiency due to GINS1 deficiency
 primary_id: OMIM:617827
 xref: ORDO:505227
For additional species annotation, visit the Alliance of Genome Resources.



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immunodeficiency 55 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gins1 GINS complex subunit 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to GINS1 deficiency OMIM
ClinVar
PMID:25741868 PMID:28414293 PMID:28492532 PMID:31630891 NCBI chr 3:139,724,513...139,745,930
Ensembl chr 3:139,724,490...139,745,936
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    syndrome 9705
      primary immunodeficiency disease 3835
        combined immunodeficiency 772
          immunodeficiency 55 1
Path 2
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          monogenic disease 8709
            autosomal genetic disease 7745
              autosomal recessive disease 4832
                immunodeficiency 55 1
paths to the root